ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) (rs879253863)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235081 SCV000292353 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2R 2015-08-18 criteria provided, single submitter research Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) and consistent with peripheral axonal neuropathy of individual.
OMIM RCV000235081 SCV000238517 pathogenic Charcot-Marie-Tooth disease, axonal, type 2R 2015-06-01 no assertion criteria provided literature only

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